John Libbey Eurotext

Médecine de la Reproduction


Premature ovarian failure with deafness, Perrault syndrome Volume 19, issue 1, Janvier-Février-Mars 2017

1 APHP, hôpital Necker-Enfants-Malades,
Centre de référence des surdités génétiques,
service de génétique médicale, Paris,
2 APHP, Hôpital Necker-Enfants-Malades,
Centre de référence des surdités génétiques,
laboratoire de génétique moléculaire, Paris,
3 Centre hospitalier universitaire Dupuytren,
service d’otorhinolaryngologie et de chirurgie cervicofaciale, Limoges,
* Tirés à part
  • Key words: Perrault syndrome, deafness, premature ovarian failure
  • DOI : 10.1684/mte.2017.0640
  • Page(s) : 21-8
  • Published in: 2017

Perrault syndrome (PS) is characterized by the association of sensorineural hearing loss and gonadic dysgenesis. The disease frequency is not well known as PS is frequently underdiagnosed. PS diagnosis may be difficult to reach according to the high phenotypic and genotypic heterogeneity. The deafness was classically described as bilateral, mild to profound but may also be progressive and even unilateral. Gonadal dysgenesis was mainly described in female. This dysgenesis seems to be constant with a wide range of severity. Neurological features (cerebellar ataxia, polyneuropathy, intellectual disability) may be associated. Autosomal recessive mutations in 5 different genes (TWNK, CLPP, HARS2, LARS2 and HSD17B4) have been identified in PS. Four of them (TWNK, CLPP, HARS2, LARS2) are implicated in mitochondrial metabolism. HSD17B4 is involved in peroxysomial metabolism.